PMID- 35595452
OWN - NLM
STAT- MEDLINE
DCOM- 20220524
LR  - 20220524
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 61
IP  - 3
DP  - 2022 May
TI  - High-level mosaicism for 45,X in 45,X/46,X,idic(Y)(q11.2) at amniocentesis in a 
      pregnancy with a favorable outcome and postnatal progressive decrease of the 45,X 
      cell line.
PG  - 528-531
LID - S1028-4559(22)00092-4 [pii]
LID - 10.1016/j.tjog.2022.03.024 [doi]
AB  - OBJECTIVE: We present prenatal diagnosis of high-level mosaicism for 45,X in 
      45,X/46,X,idic(Y)(q11.2) at amniocentesis in a pregnancy with a favorable outcome 
      and postnatal progressive decrease of the 45,X cell line. CASE REPORT: A 
      36-year-old, gravida 4, para 3, woman underwent amniocentesis at 17 weeks of 
      gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 
      45,X[22]/46,X,idic(Y)(q11.2)[4]. Prenatal ultrasound was unremarkable, and the 
      fetus had normal male external genitalia. Repeat amniocentesis was performed at 
      20 weeks of gestation, and the second amniocentesis revealed a karyotype of 
      45,X[24]/46,X,idic(Y)(q11.2)[3]. Simultaneous interphase fluorescence in situ 
      hybridization (FISH) analysis on uncultured amniocytes revealed that 60% 
      (62/103 cells) were Y-deleted cells. After genetic counseling, the parents 
      decided to continue the pregnancy, and a 3020-g male baby was delivered with a 
      body length of 52 cm, normal male genital organs and no phenotypic abnormalities. 
      The karyotypes of cord blood, umbilical cord and placenta were 
      45,X[20]/46,X,idic(Y)(q11.2)[20], 45,X[31]/46,X,idic(Y)(q11.2)[9] and 45,X[40], 
      respectively. At age one month, FISH analysis on urinary cells and buccal mucosal 
      cells revealed 11.5% (7/61 cells) and 13.6% (16/118 cells), respectively for 
      mosaicism for the Y-deleted cells. At age five month, the karyotype of peripheral 
      blood was 45,X[9]/46,X,idic(Y)(q11.2)[31]. FISH analysis on buccal mucosal cells 
      showed no abnormal Y-deleted cell (0/101 cells). At age 11 month, the karyotype 
      of peripheral blood was 45,X[5]/46,X,idic(Y)(q11.2)[35]. FISH analysis on 102 
      buccal mucosal cells showed no abnormal signals. The infant was doing well with 
      normal physical and psychomotor development. CONCLUSION: High-level mosaicism for 
      45,X in 45,X/46,X,idic(Y)(q11.2) at amniocentesis can be associated with a 
      favorable outcome and progressive decrease of the 45,X cell line.
CI  - Copyright (c) 2022. Published by Elsevier B.V.
FAU - Chen, Chih-Ping
AU  - Chen CP
AD  - Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, 
      Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; 
      School of Chinese Medicine, College of Chinese Medicine, China Medical 
      University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, 
      National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of 
      Obstetrics and Gynecology, School of Medicine, National Yang Ming Chiao Tung 
      University, Taipei, Taiwan. Electronic address: cpc_mmh@yahoo.com.
FAU - Chern, Schu-Rern
AU  - Chern SR
AD  - Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
FAU - Chen, Shin-Wen
AU  - Chen SW
AD  - Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Wu, Fang-Tzu
AU  - Wu FT
AD  - Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Lee, Chen-Chi
AU  - Lee CC
AD  - Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Chen, Li-Feng
AU  - Chen LF
AD  - Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Chen, Yun-Yi
AU  - Chen YY
AD  - Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
FAU - Wang, Wayseen
AU  - Wang W
AD  - Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
LA  - eng
PT  - Case Reports
PL  - China (Republic : 1949- )
TA  - Taiwan J Obstet Gynecol
JT  - Taiwanese journal of obstetrics & gynecology
JID - 101213819
SB  - IM
MH  - *Amniocentesis
MH  - Cell Line
MH  - Comparative Genomic Hybridization
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotype
MH  - Male
MH  - *Mosaicism
MH  - Pregnancy
MH  - Trisomy
OTO - NOTNLM
OT  - 46,X,idic(Y)(q11.2)
OT  - Amniocentesis
OT  - Isodicentric Yp
OT  - Mosaic 45,X/46,X,idic(Yp)
OT  - Turner syndrome
COIS- Declaration of competing interest The authors have no conflicts of interest 
      relevant to this article.
EDAT- 2022/05/21 06:00
MHDA- 2022/05/25 06:00
CRDT- 2022/05/20 21:07
PHST- 2022/03/03 00:00 [accepted]
PHST- 2022/05/20 21:07 [entrez]
PHST- 2022/05/21 06:00 [pubmed]
PHST- 2022/05/25 06:00 [medline]
AID - S1028-4559(22)00092-4 [pii]
AID - 10.1016/j.tjog.2022.03.024 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2022 May;61(3):528-531. doi: 10.1016/j.tjog.2022.03.024.